神経線維腫症I型

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)	NF1	Pathogenic/Likely pathogenic	17	29548872	29548872	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA219401,UniProtKB:P21359#VAR_021735,UniProtKB/Swiss-Prot:VAR_021735
single nucleotide variant	NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)	NF1	Pathogenic/Likely pathogenic	17	29527564	29527564	A	G	criteria provided, multiple submitters, no conflicts	UniProtKB/Swiss-Prot:VAR_010990,ClinGen:CA219374,UniProtKB:P21359#VAR_010990
copy number loss	GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1	NF1	Pathogenic	17	29550192	29573353	na	na	criteria provided, single submitter	dbVar:nssv577600
single nucleotide variant	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1	Pathogenic	17	29497003	29497003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325787,OMIM:613113.0046
single nucleotide variant	NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)	NF1	Pathogenic/Likely pathogenic	17	29585419	29585419	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA129599,UniProtKB/Swiss-Prot:VAR_065236,OMIM:613113.0045
single nucleotide variant	NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg)	NF1	Pathogenic	17	29556164	29556164	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA251482,UniProtKB:P21359#VAR_002654,OMIM:613113.0043
single nucleotide variant	NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)	NF1	Likely pathogenic	17	29562648	29562648	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA251473,UniProtKB:P21359#VAR_032472,OMIM:613113.0041
single nucleotide variant	NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)	NF1	Pathogenic/Likely pathogenic	17	29528062	29528062	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA212552,UniProtKB:P21359#VAR_021733,OMIM:613113.0038
Deletion	NM_001042492.3(NF1):c.3784del (p.Ser1262fs)	NF1	Pathogenic	17	29562701	29562701	GT	G	criteria provided, multiple submitters, no conflicts	OMIM:613113.0037
Deletion	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1	Pathogenic/Likely pathogenic	17	29556972	29556974	CAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA114186,OMIM:613113.0033